Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000515777 [[185939994, 185940109], [185940540, 185940645], [185940900, 185940997], [185941426, 185941950]] [[185940082, 185940109], [185940540, 185940645], [185940900, 185940997], [185941426, 185941926]]
ENST00000513599 [[185939994, 185940109], [185940540, 185940997], [185941429, 185941956]] None
ENST00000505610 [[185939994, 185940109], [185940540, 185940645], [185940900, 185940997], [185941429, 185941958]] [[185940082, 185940109], [185940540, 185940645], [185940900, 185940997], [185941429, 185941926]]
ENST00000338875 [[185940082, 185940241], [185940540, 185940645], [185940777, 185940997], [185941426, 185941926]] [[185940082, 185940241], [185940540, 185940645], [185940777, 185940997], [185941426, 185941926]]
NM_001300782 [[185939994, 185940109], [185940540, 185940645], [185940900, 185940997], [185941429, 185941958]] [[185940082, 185940109], [185940540, 185940645], [185940900, 185940997], [185941429, 185941926]]
NM_001300781 [[185939994, 185940109], [185940540, 185940645], [185940900, 185940997], [185941426, 185941958]] [[185940082, 185940109], [185940540, 185940645], [185940900, 185940997], [185941426, 185941926]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I184745 184745591 184749735 1.29 [{'connected_gene': 'CENPU', 'score': 14.19}, {'connected_gene': 'ENSG00000251139', 'score': 12.65}, {'connected_gene': 'ACSL1', 'score': 12.63}, {'connected_gene': 'HELT', 'score': 11.11}, {'connected_gene': 'CASP3', 'score': 10.83}, {'connected_gene': 'PRIMPOL', 'score': 10.83}, {'connected_gene': 'PIR41861', 'score': 0.44}, {'connected_gene': 'SLED1', 'score': 0.23}]
chr4 GH04I185136 185136833 185138974 0.4 [{'connected_gene': 'CFAP97', 'score': 11.31}, {'connected_gene': 'HELT', 'score': 11.1}, {'connected_gene': 'SLC25A4', 'score': 0.44}, {'connected_gene': 'LOC105377588', 'score': 0.23}]
chr4 GH04I185145 185145405 185145922 0.2 [{'connected_gene': 'HELT', 'score': 11.47}, {'connected_gene': 'SLC25A4', 'score': 0.77}, {'connected_gene': 'GC04P185149', 'score': 0.77}]
chr4 GH04I185018 185018785 185018844 0.73 [{'connected_gene': 'HELT', 'score': 550.77}, {'connected_gene': 'LINC02437', 'score': 0.31}]
chr4 GH04I185071 185071308 185071614 0.4 [{'connected_gene': 'HELT', 'score': 11.25}, {'connected_gene': 'ENSG00000249520', 'score': 0.44}, {'connected_gene': 'LOC105377588', 'score': 0.39}, {'connected_gene': 'LINC02436', 'score': 0.37}]
chr4 GH04I185039 185039602 185040200 0.94 [{'connected_gene': 'HELT', 'score': 12.32}, {'connected_gene': 'LINC02436', 'score': 0.39}]
chr4 GH04I185106 185106756 185110800 0.66 [{'connected_gene': 'SLC25A4', 'score': 11.94}, {'connected_gene': 'HELT', 'score': 11.13}, {'connected_gene': 'LOC105377588', 'score': 0.34}, {'connected_gene': 'LINC02436', 'score': 0.22}]
chr4 GH04I185115 185115769 185116485 1.32 [{'connected_gene': 'SLC25A4', 'score': 12.33}, {'connected_gene': 'HELT', 'score': 11.28}, {'connected_gene': 'LOC105377588', 'score': 0.31}]
chr4 GH04I185111 185111411 185114417 1.14 [{'connected_gene': 'SLC25A4', 'score': 11.94}, {'connected_gene': 'HELT', 'score': 11.12}, {'connected_gene': 'LOC105377588', 'score': 0.31}]
chr4 GH04I185117 185117280 185117771 0.65 [{'connected_gene': 'SLC25A4', 'score': 12.33}, {'connected_gene': 'HELT', 'score': 11.28}, {'connected_gene': 'LOC105377588', 'score': 0.29}]
chr4 GH04I185118 185118937 185121091 0.73 [{'connected_gene': 'SLC25A4', 'score': 18.47}, {'connected_gene': 'HELT', 'score': 11.27}, {'connected_gene': 'LOC105377588', 'score': 0.29}]
chr4 GH04I185005 185005001 185005638 0.85 [{'connected_gene': 'ACSL1', 'score': 11.35}, {'connected_gene': 'HELT', 'score': 0.39}, {'connected_gene': 'LINC02437', 'score': 0.37}]
chr4 GH04I184983 184983401 184984437 0.86 [{'connected_gene': 'LINC02437', 'score': 47.99}, {'connected_gene': 'HELT', 'score': 35.28}, {'connected_gene': 'ACSL1', 'score': 10.63}, {'connected_gene': 'ENSG00000279460', 'score': 0.77}, {'connected_gene': 'GC04P184973', 'score': 0.39}]
chr4 GH04I185086 185086235 185086583 0.56 [{'connected_gene': 'LOC105377588', 'score': 550.77}, {'connected_gene': 'LRP2BP', 'score': 29.12}, {'connected_gene': 'CCDC110', 'score': 21.61}, {'connected_gene': 'HELT', 'score': 11.82}, {'connected_gene': 'CASP3', 'score': 10.28}, {'connected_gene': 'PRIMPOL', 'score': 10.28}, {'connected_gene': 'LINC02436', 'score': 0.29}, {'connected_gene': 'SLC25A4', 'score': 0.22}]